ALK c.3718T>G ;(p.L1240V)

Variant ID: 2-29436875-A-C

NM_004304.4(ALK):c.3718T>G;(p.L1240V)

This variant was identified in 19 publications

View GRCh38 version.




Publications:


Genomic ALK alterations in primary and relapsed neuroblastoma.

British Journal Of Cancer
Rosswog, Carolina C; Fassunke, Jana J; Ernst, Angela A; Schömig-Markiefka, Birgid B; Merkelbach-Bruse, Sabine S; Bartenhagen, Christoph C; Cartolano, Maria M; Ackermann, Sandra S; Theissen, Jessica J; Blattner-Johnson, Mirjam M; Jones, Barbara B; Schramm, Kathrin K; Altmüller, Janine J; Nürnberg, Peter P; Ortmann, Monika M; Berthold, Frank F; Peifer, Martin M; Büttner, Reinhard R; Westermann, Frank F; Schulte, Johannes H JH; Simon, Thorsten T; Hero, Barbara B; Fischer, Matthias M
Publication Date: 2023-02-17

Variant appearance in text: ALK: L1240V
PubMed Link: 36807339
Variant Present in the following documents:
  • 41416_2023_2208_MOESM1_ESM.pdf
View BVdb publication page



Deep analysis of neuroblastoma core regulatory circuitries using online databases and integrated bioinformatics shows their pan-cancer roles as prognostic predictors.

Discover. Oncology
Jahangiri, Leila L; Pucci, Perla P; Ishola, Tala T; Pereira, Joao J; Cavanagh, Megan L ML; Turner, Suzanne D SD
Publication Date: 2021-11-29

Variant appearance in text: ALK: L1240V
PubMed Link: 35201514
Variant Present in the following documents:
  • 12672_2021_452_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



A full-proteome, interaction-specific characterization of mutational hotspots across human cancers.

Genome Research
Chen, Siwei S; Liu, Yuan Y; Zhang, Yingying Y; Wierbowski, Shayne D SD; Lipkin, Steven M SM; Wei, Xiaomu X; Yu, Haiyuan H
Publication Date: 2022-01

Variant appearance in text: ALK: L1240V
PubMed Link: 34963661
Variant Present in the following documents:
  • supp_gr.275437.121_Supplementary_Table_1.xlsx, sheet 3
View BVdb publication page



Targeting Oncogenic Transcriptional Networks in Neuroblastoma: From N-Myc to Epigenetic Drugs.

International Journal Of Molecular Sciences
Ciaccio, Roberto R; De Rosa, Piergiuseppe P; Aloisi, Sara S; Viggiano, Marta M; Cimadom, Leonardo L; Zadran, Suleman Khan SK; Perini, Giovanni G; Milazzo, Giorgio G
Publication Date: 2021-11-28

Variant appearance in text: ALK: Leu1240Val
PubMed Link: 34884690
Variant Present in the following documents:
  • Main text
  • ijms-22-12883.pdf
View BVdb publication page



Targeting Oncogenic Transcriptional Networks in Neuroblastoma: From N-Myc to Epigenetic Drugs.

International Journal Of Molecular Sciences
Ciaccio, Roberto R; De Rosa, Piergiuseppe P; Aloisi, Sara S; Viggiano, Marta M; Cimadom, Leonardo L; Zadran, Suleman Khan SK; Perini, Giovanni G; Milazzo, Giorgio G
Publication Date: 2021-11-28

Variant appearance in text: ALK: Leu1240Val
PubMed Link: 34884690
Variant Present in the following documents:
  • Main text
  • ijms-22-12883.pdf
View BVdb publication page



Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.

Frontiers In Endocrinology
Hescheler, Daniel A DA; Riemann, Burkhard B; Hartmann, Milan J M MJM; Michel, Maximilian M; Faust, Michael M; Bruns, Christiane J CJ; Alakus, Hakan H; Chiapponi, Costanza C
Publication Date: 2021

Variant appearance in text: ALK: L1240V
PubMed Link: 34630336
Variant Present in the following documents:
  • Table_1.xlsx, sheet 2
View BVdb publication page



The landscape of driver mutations in cutaneous squamous cell carcinoma.

Npj Genomic Medicine
Chang, Darwin D; Shain, A Hunter AH
Publication Date: 2021-07-16

Variant appearance in text: ALK: L1240V
PubMed Link: 34272401
Variant Present in the following documents:
  • 41525_2021_226_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Frequency and Prognostic Impact of ALK Amplifications and Mutations in the European Neuroblastoma Study Group (SIOPEN) High-Risk Neuroblastoma Trial (HR-NBL1).

Journal Of Clinical Oncology : Official Journal Of The American Society Of Clinical Oncology
Bellini, Angela A; Pötschger, Ulrike U; Bernard, Virginie V; Lapouble, Eve E; Baulande, Sylvain S; Ambros, Peter F PF; Auger, Nathalie N; Beiske, Klaus K; Bernkopf, Marie M; Betts, David R DR; Bhalshankar, Jaydutt J; Bown, Nick N; de Preter, Katleen K; Clément, Nathalie N; Combaret, Valérie V; Font de Mora, Jaime J; George, Sally L SL; Jiménez, Irene I; Jeison, Marta M; Marques, Barbara B; Martinsson, Tommy T; Mazzocco, Katia K; Morini, Martina M; Mühlethaler-Mottet, Annick A; Noguera, Rosa R; Pierron, Gaelle G; Rossing, Maria M; Taschner-Mandl, Sabine S; Van Roy, Nadine N; Vicha, Ales A; Chesler, Louis L; Balwierz, Walentyna W; Castel, Victoria V; Elliott, Martin M; Kogner, Per P; Laureys, Geneviève G; Luksch, Roberto R; Malis, Josef J; Popovic-Beck, Maja M; Ash, Shifra S; Delattre, Olivier O; Valteau-Couanet, Dominique D; Tweddle, Deborah A DA; Ladenstein, Ruth R; Schleiermacher, Gudrun G
Publication Date: 2021-10-20

Variant appearance in text: ALK: L1240V
PubMed Link: 34115544
Variant Present in the following documents:
  • jco-39-3377.pdf
View BVdb publication page



Pan-neuroblastoma analysis reveals age- and signature-associated driver alterations.

Nature Communications
Brady, Samuel W SW; Liu, Yanling Y; Ma, Xiaotu X; Gout, Alexander M AM; Hagiwara, Kohei K; Zhou, Xin X; Wang, Jian J; Macias, Michael M; Chen, Xiaolong X; Easton, John J; Mulder, Heather L HL; Rusch, Michael M; Wang, Lu L; Nakitandwe, Joy J; Lei, Shaohua S; Davis, Eric M EM; Naranjo, Arlene A; Cheng, Cheng C; Maris, John M JM; Downing, James R JR; Cheung, Nai-Kong V NV; Hogarty, Michael D MD; Dyer, Michael A MA; Zhang, Jinghui J
Publication Date: 2020-10-14

Variant appearance in text: ALK: L1240V
PubMed Link: 33056981
Variant Present in the following documents:
  • 41467_2020_Article_18987.pdf
  • 41467_2020_18987_MOESM7_ESM.xlsx, sheet 1
  • 41467_2020_18987_MOESM11_ESM.xlsx, sheet 9
View BVdb publication page



Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports
Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA
Publication Date: 2020-09-21

Variant appearance in text: ALK: L1240V
PubMed Link: 32958805
Variant Present in the following documents:
  • 41598_2020_72404_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Somatic structural variation targets neurodevelopmental genes and identifies SHANK2 as a tumor suppressor in neuroblastoma.

Genome Research
Lopez, Gonzalo G; Conkrite, Karina L KL; Doepner, Miriam M; Rathi, Komal S KS; Modi, Apexa A; Vaksman, Zalman Z; Farra, Lance M LM; Hyson, Eric E; Noureddine, Moataz M; Wei, Jun S JS; Smith, Malcolm A MA; Asgharzadeh, Shahab S; Seeger, Robert C RC; Khan, Javed J; Auvil, Jaime Guidry JG; Gerhard, Daniela S DS; Maris, John M JM; Diskin, Sharon J SJ
Publication Date: 2020-09

Variant appearance in text: ALK: 3718T>G; Leu1240Val
PubMed Link: 32796005
Variant Present in the following documents:
  • supp_gr.252106.119_Supplemental_Table_S7.xlsx, sheet 1
View BVdb publication page



Identification of targeted therapy options for gastric adenocarcinoma by comprehensive analysis of genomic data.

Gastric Cancer : Official Journal Of The International Gastric Cancer Association And The Japanese Gastric Cancer Association
Hescheler, Daniel A DA; Plum, Patrick S PS; Zander, Thomas T; Quaas, Alexander A; Korenkov, Michael M; Gassa, Asmae A; Michel, Maximilian M; Bruns, Christiane J CJ; Alakus, Hakan H
Publication Date: 2020-07

Variant appearance in text: ALK: L1240V
PubMed Link: 32107691
Variant Present in the following documents:
  • 10120_2020_1045_MOESM1_ESM.xlsx, sheet 12
View BVdb publication page



Low Frequency ALK Hotspots Mutations In Neuroblastoma Tumours Detected By Ultra-deep Sequencing: Implications For ALK Inhibitor Treatment.

Scientific Reports
Javanmardi, Niloufar N; Fransson, Susanne S; Djos, Anna A; Sjöberg, Rose-Marie RM; Nilsson, Staffan S; Truvé, Katarina K; Kogner, Per P; Martinsson, Tommy T
Publication Date: 2019-02-18

Variant appearance in text: ALK: L1240V
PubMed Link: 30778092
Variant Present in the following documents:
  • Main text
  • 41598_2018_Article_37240.pdf
View BVdb publication page



Structure and energy based quantitative missense variant effect analysis provides insights into drug resistance mechanisms of anaplastic lymphoma kinase mutations.

Scientific Reports
Li, Jianzong J; Huang, Yue Y; Wu, Miaomiao M; Wu, Chuanfang C; Li, Xin X; Bao, Jinku J
Publication Date: 2018-07-13

Variant appearance in text: ALK: L1240V
PubMed Link: 30006516
Variant Present in the following documents:
  • 41598_2018_28752_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Pan-cancer genome and transcriptome analyses of 1,699 paediatric leukaemias and solid tumours.

Nature
Ma, Xiaotu X; Liu, Yu Y; Liu, Yanling Y; Alexandrov, Ludmil B LB; Edmonson, Michael N MN; Gawad, Charles C; Zhou, Xin X; Li, Yongjin Y; Rusch, Michael C MC; Easton, John J; Huether, Robert R; Gonzalez-Pena, Veronica V; Wilkinson, Mark R MR; Hermida, Leandro C LC; Davis, Sean S; Sioson, Edgar E; Pounds, Stanley S; Cao, Xueyuan X; Ries, Rhonda E RE; Wang, Zhaoming Z; Chen, Xiang X; Dong, Li L; Diskin, Sharon J SJ; Smith, Malcolm A MA; Guidry Auvil, Jaime M JM; Meltzer, Paul S PS; Lau, Ching C CC; Perlman, Elizabeth J EJ; Maris, John M JM; Meshinchi, Soheil S; Hunger, Stephen P SP; Gerhard, Daniela S DS; Zhang, Jinghui J
Publication Date: 2018-03-15

Variant appearance in text: ALK: L1240V
PubMed Link: 29489755
Variant Present in the following documents:
  • NIHMS939556-supplement-Table_2-7.xlsx, sheet 4
View BVdb publication page



The role of anaplastic lymphoma kinase in pediatric cancers.

Cancer Science
Takita, Junko J
Publication Date: 2017-10

Variant appearance in text: ALK: L1240V
PubMed Link: 28756644
Variant Present in the following documents:
  • CAS-108-1913.pdf
View BVdb publication page



A Landscape of Pharmacogenomic Interactions in Cancer.

Cell
Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ
Publication Date: 2016-07-28

Variant appearance in text: ALK: 3718T>G; L1240V
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
View BVdb publication page



Anaplastic Lymphoma Kinase as a Cancer Target in Pediatric Malignancies.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Mossé, Yael P YP
Publication Date: 2016-02-01

Variant appearance in text: ALK: L1240V
PubMed Link: 26503946
Variant Present in the following documents:
  • Main text
View BVdb publication page



ALK mutations confer differential oncogenic activation and sensitivity to ALK inhibition therapy in neuroblastoma.

Cancer Cell
Bresler, Scott C SC; Weiser, Daniel A DA; Huwe, Peter J PJ; Park, Jin H JH; Krytska, Kateryna K; Ryles, Hannah H; Laudenslager, Marci M; Rappaport, Eric F EF; Wood, Andrew C AC; McGrady, Patrick W PW; Hogarty, Michael D MD; London, Wendy B WB; Radhakrishnan, Ravi R; Lemmon, Mark A MA; Mossé, Yaël P YP
Publication Date: 2014-11-10

Variant appearance in text: ALK: L1240V
PubMed Link: 25517749
Variant Present in the following documents:
  • Main text
View BVdb publication page



The genetic landscape of high-risk neuroblastoma.

Nature Genetics
Pugh, Trevor J TJ; Morozova, Olena O; Attiyeh, Edward F EF; Asgharzadeh, Shahab S; Wei, Jun S JS; Auclair, Daniel D; Carter, Scott L SL; Cibulskis, Kristian K; Hanna, Megan M; Kiezun, Adam A; Kim, Jaegil J; Lawrence, Michael S MS; Lichenstein, Lee L; McKenna, Aaron A; Pedamallu, Chandra Sekhar CS; Ramos, Alex H AH; Shefler, Erica E; Sivachenko, Andrey A; Sougnez, Carrie C; Stewart, Chip C; Ally, Adrian A; Birol, Inanc I; Chiu, Readman R; Corbett, Richard D RD; Hirst, Martin M; Jackman, Shaun D SD; Kamoh, Baljit B; Khodabakshi, Alireza Hadj AH; Krzywinski, Martin M; Lo, Allan A; Moore, Richard A RA; Mungall, Karen L KL; Qian, Jenny J; Tam, Angela A; Thiessen, Nina N; Zhao, Yongjun Y; Cole, Kristina A KA; Diamond, Maura M; Diskin, Sharon J SJ; Mosse, Yael P YP; Wood, Andrew C AC; Ji, Lingyun L; Sposto, Richard R; Badgett, Thomas T; London, Wendy B WB; Moyer, Yvonne Y; Gastier-Foster, Julie M JM; Smith, Malcolm A MA; Guidry Auvil, Jaime M JM; Gerhard, Daniela S DS; Hogarty, Michael D MD; Jones, Steven J M SJ; Lander, Eric S ES; Gabriel, Stacey B SB; Getz, Gad G; Seeger, Robert C RC; Khan, Javed J; Marra, Marco A MA; Meyerson, Matthew M; Maris, John M JM
Publication Date: 2013-03

Variant appearance in text: ALK: 3718T>G; L1240V
PubMed Link: 23334666
Variant Present in the following documents:
  • NIHMS474900-supplement-3.xlsx, sheet 1
View BVdb publication page